A62V (p.Ala62Val) variant of NCF1 (Neutrophil cytosol factor 1)
A62V (p.Ala62Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- Ensembl rs1796532760
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.40
- MetaLR 0.52
- MetaSVM 0.19
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0747